Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F52Y

RHO

2,465 papers

RefSeq Summary

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when lig...

Pfam Domains

Rhodopsin_Naa 2–37UCSCAmino terminal of the G-protein receptor rhodopsin
7tm_1aa 54–306UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

rhodopsin

HGNC Previous Symbol

RP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000539.3
p.F52Y
c.155T>A
Surrounding Variants
1 paper
NM_000539.3
p.F52I
c.154T>A
3 papers
NM_000539.3
p.F52V
c.154T>G
1 paper
NM_000539.3
p.P53A
c.157C>G
34 papers
NM_000539.3
p.P53R
c.158C>G
8 papers
NM_000539.3
p.G51D
c.152G>A
31 papers
NM_000539.3
p.G51A
c.152G>C
33 papers
NM_000539.3
p.G51V
c.152G>T
1 paper
NM_000539.3
p.P53_I54ins1
c.159_160insTAA
2 papers
NM_000539.3
p.G51S
c.151G>A
24 papers
NM_000539.3
p.G51R
c.151G>C
1 paper
NM_000539.3
p.I54insFs
c.160_161insCT
2 papers
NM_000539.3
p.I54V
c.160A>G
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